Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH.
Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH.
Semin Hematol. 2021 Jan;58(1):1-3. doi: 10.1053/j.seminhematol.2020.11.009. Epub 2020 Dec 14.
A common thread through malignant and nonmalignant diseases alerts us to a therapeutic opportunity to seize: disease may originate from genetic mutations, but resulting maladaptive/unhealthy cell fates and functions are mediated by epigenetic enzymes, that are druggable. Epigenetic enzymes modify DNA, and/or the histones around which DNA is organized, to regulate access to genes by the basal transcription factor machinery that transcribes genes. Epigenetic enzymes can be divided usefully into those that facilitate gene transcription ("on" enzymes or coactivators) and those that favor gene repression ("off" enzymes or corepressors). DNA-binding master transcription factors cooperate to recruit coactivators, and repulse corepressors, from thousands of genes, to thereby activate the gene expression programs that define cell fates and functions. In malignancy, this usual exchange of corepressors for coactivators fails, because of mutations to master transcription factors or the coactivators they recruit. Inhibiting corepressor enzymes using small molecules uses pharmacology to redress this coactivator/corepressor imbalance that originates from genetics, to in this way release cancer cells to the terminal lineage-fates intended by their master transcription factor content. Similarly, in nonmalignant β-hemoglobinopathies, inhibiting corepressors exploits transcription factor and lineage-context to activate unmutated fetal over mutated adult globin genes, to thereby treat these nonmalignant genetic diseases. Master transcription factors then are the "natural forces" in the Hippocratic dictum "Natural forces within us are the true healers of disease," and drugging epigenetic enzymes (corepressors) a way to harness these forces to heal.
疾病可能起源于基因突变,但由此产生的适应性不良/不健康的细胞命运和功能是由可药物治疗的表观遗传酶介导的。表观遗传酶修饰 DNA 以及(或)围绕 DNA 组织的组蛋白,以调节基本转录因子机制对基因的访问,该机制转录基因。表观遗传酶可以有用地分为促进基因转录的酶(“开启”酶或共激活因子)和有利于基因抑制的酶(“关闭”酶或核心抑制剂)。 DNA 结合的主转录因子合作,从数千个基因中招募共激活因子,并排斥核心抑制剂,从而激活定义细胞命运和功能的基因表达程序。在恶性肿瘤中,由于主转录因子或它们招募的共激活因子发生突变,这种通常的核心抑制剂与共激活因子的交换失败。使用小分子抑制核心抑制剂酶利用药理学来纠正这种起源于遗传学的共激活因子/核心抑制剂失衡,从而使癌细胞释放到其主转录因子含量所预期的终末谱系命运。同样,在非恶性β-血红蛋白病中,抑制核心抑制剂利用转录因子和谱系背景来激活未突变的胎儿珠蛋白基因而不是突变的成人珠蛋白基因,从而治疗这些非恶性遗传疾病。主转录因子是希波克拉底格言“体内的自然力量是疾病的真正治疗者”中的“自然力量”,而药物治疗表观遗传酶(核心抑制剂)是利用这些力量治愈疾病的一种方法。